Varaico: Literature-Extracted Genetic Variants

Gene:MCL1
Variant:p.R6R

MCL1

397 papers

RefSeq Summary

This gene encodes an anti-apoptotic protein, which is a member of the Bcl-2 family. Alternative splicing results in multiple transcript variants. The longest gene product (isoform 1) enhances cell sur...

Pfam Domains

Bcl-2aa 60–159UCSCApoptosis regulator proteins, Bcl-2 family

Gene Aliases

HGNC Name

MCL1 apoptosis regulator, BCL2 family member

HGNC Alias Symbols

BCL2L3; Mcl-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_021960.5
p.R6R
c.16A>C
Surrounding Variants
1 paper
NM_021960.5
p.R6T
c.17G>C
1 paper
NM_021960.5
p.K5_R6del1
c.14_16delTTT
1 paper
NM_021960.5
p.K5E
c.13A>G
1 paper
NM_021960.5
p.L4P
c.11T>C
1 paper
NM_021960.5
p.A8S
c.22G>T
1 paper
NM_021960.5
p.N7_A8Fs
c.21_22delinsTFs
1 paper
NM_021960.5
p.A8fs
c.22_23fs
1 paper
NM_021960.5
p.L4F
c.10C>T
1 paper
NM_021960.5
p.M1delFs
c.3delC
1 paper
NM_021960.5
p.I10N
c.29T>A
1 paper
NM_021960.5
p.M1I
c.3G>T
1 paper
NM_021960.5
p.M1I
c.3G>A
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